Search results for "facies"

showing 10 items of 232 documents

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

2015

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…

Malemedicine.medical_specialtyAdolescentgenetic structuresMowat–Wilson syndromeRetinal Pigment EpitheliumBiologyEyeCataractchemistry.chemical_compoundAtrophyIntellectual DisabilityOphthalmologyGeneticsmedicineHumansHirschsprung Disease[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrgansIris (anatomy)HyphemaGenetics (clinical)Zinc Finger E-box Binding Homeobox 2Homeodomain ProteinsRetinaFaciesOptic NerveRetinalAnatomymedicine.diseaseeye diseasesColobomaRepressor Proteinsmedicine.anatomical_structurechemistryChild PreschoolLens (anatomy)MutationMicrocephalyOptic nerveFemalesense organsAtrophy[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyAmerican Journal of Medical Genetics Part A
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14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…

2011

Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesCandidate geneAdolescentID/MCA deletion syndromeLocus (genetics)MicrophthalmiamicroformSettore MED/38 - Pediatria Generale E SpecialisticaHoloprosencephalyIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansMicrophthalmoschromosome 14q deletionIn Situ Hybridization FluorescenceGenetics (clinical)Sequence DeletionChromosomes Human Pair 14GeneticsComparative Genomic HybridizationColobomabiologybusiness.industryNPAS3Faciesmedicine.diseaseeye diseasesDevelopmental disorderPhenotypeholoprosencephalySettore MED/03 - Genetica MedicaGenetic Lociarray-CGHbiology.proteinbusinessAmerican Journal of Medical Genetics Part A
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Paleoenvironmental context of the early Neanderthals of Poggetti Vecchi for the late middle Pleistocene of Central Italy

2017

AbstractWork on thermal pools at Poggetti Vecchi in Grosseto, Italy, exposed an up to 3-meter-thick succession of seven sedimentary units. Unit 2 in the lower portion of the succession contained vertebrate bones, mostly of the straight-tusked elephant, Palaeoloxodon antiquus, commingled with stone, bone, and wooden tools. Thermal carbonates overlying Unit 2 are radiometrically dated to the latter part of the middle Pleistocene. This time span indicates that early Neanderthals produced the human artifacts from Poggetti Vecchi. The elephant bones belong to seven individuals of different ages. Sedimentary facies analysis and paleoecological evidence suggest a narrow lacustrine-palustrine embay…

Marine isotope stage010506 paleontologyPleistoceneLate middle PleistoceneContext (language use)010502 geochemistry & geophysics01 natural sciencesSudden deathPaleontologyArts and Humanities (miscellaneous)0105 earth and related environmental sciencesEarth-Surface ProcessesLate Middle PleistoceneCentral ItalyPalaeoloxodonbiologyEarly NeanderthalSettore GEO/01 - Paleontologia E Paleoecologiabiology.organism_classificationEarly NeanderthalsArchaeologyPaleoenvironmentFaciesPaleoecologyGeneral Earth and Planetary SciencesSedimentary rockPaleoecologyCentral Italy; Early Neanderthals; Late middle Pleistocene; Paleoecology; PaleoenvironmentGeology
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Freshening of the Mediterranean Salt Giant: controversies and certainties around the terminal (Upper Gypsum and Lago-Mare) phases of the Messinian Sa…

2021

The late Miocene evolution of the Mediterranean Basin is characterized by major changes in connectivity, climate and tectonic activity resulting in unprecedented environmental and ecological disruptions. During the Messinian Salinity Crisis (MSC, 5.97-5.33 Ma) this culminated in most scenarios first in the precipitation of gypsum around the Mediterranean margins (Stage 1, 5.97-5.60 Ma) and subsequently > 2 km of halite on the basin floor, which formed the so-called Mediterranean Salt Giant (Stage 2, 5.60-5.55 Ma). The final MSC Stage 3, however, was characterized by a "low-salinity crisis", when a second calcium-sulfate unit (Upper Gypsum; substage 3.1, 5.55-5.42 Ma) showing (bio)geochemica…

Mediterranean climate010504 meteorology & atmospheric sciencesSettore GEO/02 - Geologia Stratigrafica E SedimentologicaGeochemistryMediterranean stratigraphyEarth and Planetary Sciences(all)[SDU.STU]Sciences of the Universe [physics]/Earth SciencesStructural basinengineering.materialLate MioceneMessinian Salinity Crisis010502 geochemistry & geophysics01 natural sciencesMediterranean BasinParatethyLago-MareConnectivity proxie14. Life underwaterComputingMilieux_MISCELLANEOUS0105 earth and related environmental sciencesParatethysBrackish waterTerrigenous sedimentMessinian Salinity CrisiSettore GEO/01 - Paleontologia E PaleoecologiaSettore GEO/08 - Geochimica E Vulcanologia13. Climate actionPaleogeographyFaciesengineeringGeneral Earth and Planetary SciencesHaliteGeologyConnectivity proxies
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Reconstruction of the paleoenvironmental changes around the Miocene-Pliocene boundary along a W-E transect across the Mediterranean

2006

Abstract In order to reconstruct the environmental changes at the end of the Messinian salinity crisis, a multidisciplinary study has been carried out with a high sampling resolution of the late Messinian–early Zanclean (Zone MPl 1) sediments along a West–East Mediterranean transect. The studied examples comprise sections from southern Spain (Vera/Almanzora), Balearic Basin (ODP Site 975), Tyrrhenian Basin (ODP Site 974), Sicily (Eraclea Minoa), Zakynthos (Kalamaki), Corfu (Aghios Stefanos), Crete (Aghios Vlasis). Previously analyzed sections from the Levantine Basin (Cyprus and ODP Sites 968 and 969) are used for comparison. The sections have been correlated using planktonic foraminiferal …

Mediterranean climate010506 paleontologySettore GEO/02 - Geologia Stratigrafica E Sedimentologicaδ18OStratigraphy[PHYS.PHYS.PHYS-GEO-PH]Physics [physics]/Physics [physics]/Geophysics [physics.geo-ph]010502 geochemistry & geophysics01 natural sciencesMediterranean areaPlanktonic foraminiferMiocene–Pliocene transitionPaleontologyStratotype14. Life underwaterSedimentologyTransect0105 earth and related environmental sciencesSettore GEO/06 - Mineralogiaδ13CbiologyGeologySedimentologySettore GEO/01 - Paleontologia E Paleoecologiabiology.organism_classificationStable isotope6. Clean waterSettore GEO/08 - Geochimica E VulcanologiaAmmonia tepida13. Climate actionFaciesGeology
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Lithic production in the centre and south of the Iberian Mediterranean region (Spain) throughout the Pleistocene–Holocene transition (14.5–10.5 ky ca…

2020

Abstract For the first time we compare lithic production systems from the three archaeological phases identified in the Iberian Mediterranean region between 14.5 and 10.5 ky cal BP: final Magdalenian, microlaminar Epipalaeolithic and sauveterroid Epipalaeolithic. These phases coincided with rapid palaeoenvironmental changes, whose effects on a peripheral region of southern Europe require a regional analysis. The basic blanks used in all three phases were blades and bladelets and there is considerable typological homogeneity. The results obtained in the study of the three phases identified at Coves de Santa Maira provide new grounds for discussion about lithic production systems during the P…

Mediterranean climate010506 paleontologygeography.geographical_feature_categoryPleistocene010502 geochemistry & geophysics01 natural sciencesArchaeologyGeographyPeninsulaFaciesBladeletsMagdalenianCoveHolocene0105 earth and related environmental sciencesEarth-Surface ProcessesQuaternary International
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Paleoclimatic control of biogeographic and sedimentary events in Tethyan and peri-Tethyan areas during the Oxfordian (Late Jurassic)

2005

International audience; The paleobiogeographical distribution of Oxfordian ammonites and coral reefs in northern and Central Europe, the Mediterranean area, North and East Africa, and the Middle East and Central Asia is compared with the distribution in time and space of the most important lithofacies. Interest in the Oxfordian is focused on changes in facies and in biogeographical patterns that can be interpreted as the results of climatic events. Paleotemperature trends inferred from oxygen isotopes and paleoclimatic simulations are tested against fossil and facies data. A Late Callovian–Early Oxfordian crisis in carbonate production is indicated by the widespread absence of Lower Oxfordi…

Mediterranean climate010506 paleontologyδ18OHiatus010502 geochemistry & geophysicsOceanography[ SDU.STU.ST ] Sciences of the Universe [physics]/Earth Sciences/StratigraphyPaleobiogeography01 natural sciencesIsotopes of oxygenOxfordianchemistry.chemical_compoundPaleontologyAmmonites14. Life underwaterTethysPaleoclimates[SDU.STU.AG]Sciences of the Universe [physics]/Earth Sciences/Applied geologyEcology Evolution Behavior and Systematics0105 earth and related environmental sciencesEarth-Surface Processes[ SDU.STU.PG ] Sciences of the Universe [physics]/Earth Sciences/Paleontologygeographygeography.geographical_feature_categoryPaleontologyCoral reefchemistry13. Climate action[SDU.STU.CL]Sciences of the Universe [physics]/Earth Sciences/Climatology[SDU.STU.ST]Sciences of the Universe [physics]/Earth Sciences/StratigraphyFaciesCoralsCarbonateSedimentary rock[ SDU.STU.CL ] Sciences of the Universe [physics]/Earth Sciences/Climatology[SDU.STU.PG]Sciences of the Universe [physics]/Earth Sciences/PaleontologyGeology[ SDU.STU.AG ] Sciences of the Universe [physics]/Earth Sciences/Applied geology
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Middle Triassic carbonate platforms in eastern Iberia: Evolution of their fauna and palaeogeographic significance in the western Tethys

2015

Abstract This article reports the first integrated study of the Middle Triassic of Iberia, based on the stratigraphy, sedimentology, and fossil fauna of Muschelkalk facies of the Iberian Ranges and the Catalan Coastal Ranges in Spain. On the basis of this study, new palaeogeographic reconstructions of the westernmost Tethys are proposed, and the evolution of the different palaeogeographic domains of Iberia (e.g., Iberian, Mediterranean, and Levantine–Balearic) are described. In these domains, Muschelkalk facies record the development of wide carbonate platforms that were the consequence of the first two broad marine transgressions of the Mesozoic in Iberia, respectively, late Pelsonian–earl…

Mediterranean climatebiologyFaunaPaleontologyOceanographybiology.organism_classificationForaminiferaPaleontologySinistral and dextralFaciesTransgressiveMesozoicSedimentologyEcology Evolution Behavior and SystematicsGeologyEarth-Surface ProcessesPalaeogeography, Palaeoclimatology, Palaeoecology
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Cerro del Hierro, Spain: the largest exposed early Cambrian palaeokarst

2020

AbstractWe study the largest exposed example of an early Cambrian palaeokarst, associated with laterites and developed during rifting of the Ossa–Morena Zone. The lithostratigraphy, biostratigraphy, facies and the genesis reflect episodes of sea-level fall (Cerro del Hierro Regression) related to tectonic events and palaeoclimate. This palaeokarst can be primarily considered as the result of early Cambrian polyphase karstification in an extensional tectonic regime, later modified by Neogene–Quaternary geomorphological processes. The event may correlate with other regressive events of a similar age in Spain, Italy, United Kingdom, South America and Australia. This episode also has local name…

Mediterranean climategeographyRiftgeography.geographical_feature_category010504 meteorology & atmospheric sciencesLithostratigraphyGeologyContext (language use)Biostratigraphy010502 geochemistry & geophysicsKarst01 natural sciencesTectonicsPaleontologyFaciesGeology0105 earth and related environmental sciencesGeological Magazine
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The barren Messinian Tripoli in Sicily and its palaeoenvironmental evolution: suggestions on the exploration potential

2016

New observations on the Sicily Messinian Tripoli have yielded a variably thick diatomitic, calcareous and shaly rock interval marked by an upwards disappearance of calcareous and siliceous plankton (barren lithosome), coexisting with a variability in vegetal remains and significant amounts of amorphous organic matter (AOM). Facies analysis associated with biostratigraphy and palaeoecology of the several field and borehole sections has been framed in a well-accepted chronological scheme that points to this barren interval coinciding with the stratigraphic upper and younger part of some Tripoli sections (bituminous Tripoli) located in the northern part of the study area. Biostratigraphically,…

Messinian Tripoli010506 paleontologyCalcareous Plankton BiostratigraphyPalaeoecologyGeologyDiachronousBiostratigraphy010502 geochemistry & geophysics01 natural sciencesPaleontologyTectonicsFuel TechnologyStratigraphyGeochemistry and PetrologyFaciesMagmatismEarth and Planetary Sciences (miscellaneous)PaleoecologyEconomic GeologyFacies analysiPalaeogeographyGeology0105 earth and related environmental sciencesPetroleum Geoscience
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